雌性激素受体β基因多态性与特发性脊柱侧凸易感性的关系  

Association of estrogen receptorβ gene polymorphisms with susceptibility to adolescent idiopathic scoliosis

作　　者：张宏其[1] 鲁世金[1] 郭超峰[1] 陈凌强[1] 刘少华[1] 王永福[1] 唐明星[1] 赵迪[1] 

机构地区：[1]中南大学湘雅医院脊柱外科湘雅脊柱外科中心,湖南长沙410008

出　　处：《中国现代医学杂志》2008年第8期1027-1031,1035,共6页China Journal of Modern Medicine

基　　金：湖南省卫生厅科研基金资助(No:B2006-040);湖南省科技厅科技计划一般项目资助(No:06SK3015)

摘　　要：目的探讨ERβ基因多态现象与青少年特发性脊柱侧凸(AIS)易感性之间的关联性。方法采集102名AIS患者和100名健康对照组外周静脉血,记录女性AIS患者的身高、月经初潮年龄、侧弯类型、Cobb角和Risser征。通过对ERβ基因的检测分析,比较ERβ多态基因型在AIS患者和健康对照组之间的分布,判断ERβ基因多态现象与AIS易感性之间是否存在关联性。结果ERβ基因外显子-458T>C变异和984G>A变异所产生的纯合子和杂合子变异基因型在AIS病人和女性病人中发生的频率明显较对照组高(P<0.05)。并且,变异等位基因在AIS病人中发生频率明显高于对照组(P<0.05),尤其女性AIS患者中较对照组明显(P<0.05);另外,在女性AIS病人中,ERβ基因外显子"OK"第268位CC基因型和第5号外显子第32位AA基因型在Cobb角≥30°的女性病人中发生的频率较Cobb角<30°者显著增高(P<0.05);而且,这两种基因型在身高≥160cm的女性病人中的发生率较身高<160cm者也显著增高,差异有显著性(P<0.05)。结论ERβ基因多态性与IAS易感性有关,尤其是女性。表明ERβ基因外显子"OK"和第5号外显子多态基因型和(或)A等位基因可能是AIS发病的风险因子。另外,ERβ基因外显子"OK"和第5号外显子多态现象与女性AIS患者侧弯的程度和身高有关。[Objective] To investigate the association of estrogen receptor β gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. [Methods] This study included 102 patients with AIS and 100 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. Blood samples were taken from each subject by venipuncture. Genomic DNA was extracted from peripheral blood leukocytes using standard phenol/chloroform extraction. PCR products from amplification of genomic DNA from all indi- viduals were analysed using SSCP. Mutation analysis were carried out for the samples with aberrant SSCP profiles and the polymorphic loci were analyzed by RFLP. The χ^2 test was used to determine the significant difference in genotype distribution between patients with AIS and the controls. [Results] The frequency of CC genotype of the extron ＂OK＂, AA of the extron 5 were significantly higher in patients than that in controls （P 〈0.05）. The C and A alleles appeared to be overrepresented in patients compared with controls （P 〈0.05）. Furthermore, the frequencies of CC and AA genotypes in female patients whose height was≥160 cm and Cobb angle ≥30°were higher than thosewhose height was 〈160 cm and Cobb angle 〈30°（P 〈0.05）. [Conclusions] The sites of the extron ＂OK＂, extron 5 polymorphism of estrogen receptor geneβ may be associated with a susceptibility of AIS. Furthermore, The sites of the extron ＂OK＂ and extron 5 polymorphism may be associated with the height and the curve severity of patients.

关 键 词：ERΒ 多态现象 AIS 易感性 

分 类 号：R682.13[医药卫生—骨科学]